Email Alert RSS
Volume 12 Issue 4
Jul.  2021
Turn off MathJax
Article Contents
Article Navigation >  Medical Journal of Peking Union Medical College Hospital  > 2021  >  12(4): 450-455
YU Songlin, WANG Danchen, ZOU Yutong, MA Xiaoli, QIU Ling. The Clinical Application of Liquid Chromatography-Tandem Mass Spectrometry in the Diagnosis of Rare Diseases[J]. Medical Journal of Peking Union Medical College Hospital, 2021, 12(4): 450-455. doi: 10.12290/xhyxzz.2021-0324
Citation: YU Songlin, WANG Danchen, ZOU Yutong, MA Xiaoli, QIU Ling. The Clinical Application of Liquid Chromatography-Tandem Mass Spectrometry in the Diagnosis of Rare Diseases[J]. Medical Journal of Peking Union Medical College Hospital, 2021, 12(4): 450-455. doi: 10.12290/xhyxzz.2021-0324
shu

The Clinical Application of Liquid Chromatography-Tandem Mass Spectrometry in the Diagnosis of Rare Diseases

doi: 10.12290/xhyxzz.2021-0324

  • Department of Clinical Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China

Funds:

Beijing Key Clinical Specialty for Laboratory Medicine-Excellent Project ZK201000

Capital's Funds for Health Improvement and Research 2020-1-4014

Innovation-led Industrial Cluster Project of Zheng-Luo-Xin National Innovation Demonstration Area 201200211100

More Information
  • Corresponding author: QIU Ling  Tel: 86-10-69159712, E-mail: lingqiubj@163.com
  • Received Date: 2021-04-12
  • Accepted Date: 2021-04-29
    • Available Online: 2021-06-28
  • Publish Date: 2021-07-30
    Abstract
  • Rare diseases, with the characteristics of abundant species, low prevalence, and difficulty in diagnosis and treatment, have drawn more and more attention from our country in recent years. Usually, conventional laboratory tests can not meet the requirements for the diagnosis of rare diseases. Due to its high specificity, the ability of simultaneously differentiating and quantifying various metabolites, and so on, liquid chromatography-tandem mass spectrometry (LC-MS/MS) has attracted wide attention in clinical laboratories, and been gradually moving from scientific research to the forefront of clinical practice. Based on the first batch of rare diseases published in China, we summarized in this study the status and prospect of LC-MS/MS in the clinical application of diagnosing rare diseases.
    • FullText(HTML)
  • loading
    • References(37)
  • [1] Herold DA, Fitzgerald RL. Immunoassays for testosterone in women: better than a guess?[J]. Clin Chem, 2003, 49: 1250-1251. doi:  10.1373/49.8.1250
    [2] Speiser PW, Arlt W, Auchus RJ, et al. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline[J]. J Clin Endocrinol Metab, 2018, 103: 4043-4088. http://www.tandfonline.com/servlet/linkout?suffix=CIT0004&dbid=8&doi=10.1080%2F17446651.2018.1455496&key=20823466
    [3] Hines JM, Bancos I, Bancos C, et al. High-Resolution, Accurate-Mass (HRAM) Mass Spectrometry Urine Steroid Profiling in the Diagnosis of Adrenal Disorders[J]. Clin Chem, 2017, 63: 1824-1835. doi:  10.1373/clinchem.2017.271106
    [4] Wang Z, Wang H, Peng Y, et al. A liquid chromatography-tandem mass spectrometry (LC-MS/MS)-based assay to profile 20 plasma steroids in endocrine disorders[J]. Clin Chem Lab Med, 2020, 58: 1477-1487. doi:  10.1515/cclm-2019-0869
    [5] Mulatero P, di Cella SM, Monticone S, et al. 18-hydroxycorticosterone, 18-hydroxycortisol, and 18-oxocortisol in the diagnosis of primary aldosteronism and its subtypes[J]. J Clin Endocrinol Metab, 2012, 97: 881-889. doi:  10.1210/jc.2011-2384
    [6] Lenders JW, Duh QY, Eisenhofer G, et al. Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline[J]. J Clin Endocrinol Metab, 2014, 99: 1915-1942. http://jmg.bmj.com/external-ref?access_num=10.1210/jc.2014-1498&link_type=DOI
    [7] 中华医学会内分泌学分会. 嗜铬细胞瘤和副神经节瘤诊断治疗专家共识(2020版)[J]. 中华内分泌代谢杂志, 2020, 36: 737-750. doi:  10.3760/cma.j.cn311282-20200629-00482
    [8] 刘庆香, 周伟燕, 张传宝. 儿茶酚胺及其代谢物的检测现状及标准化期望[J]. 中华检验医学杂志, 2020, 43: 322-327. doi:  10.3760/cma.j.issn.1009-9158.2020.03.024

    Liu QX, Zhou WY, Zhang CB. Detection and standardiza-tion of catecholamines and their metabolites[J]. Zhonghua Jianyan Yixue Zazhi, 2020, 43: 322-327. doi:  10.3760/cma.j.issn.1009-9158.2020.03.024
    [9] Danese E, Montagnana M, Brentegani C, et al. Short-term stability of free metanephrines in plasma and whole blood[J]. Clin Chem Lab Med, 2020, 58: 753-757. doi:  10.1515/cclm-2019-0020
    [10] Yu S, Wang D, Yu J, et al. Plasma or serum, which is the better choice for the measurement of metanephrines?[J]. Scand J Clin Lab Invest, 2021, 81: 250-253. doi:  10.1080/00365513.2021.1904280
    [11] 孙丽芳, 李杰. 串联质谱技术应用于新生儿遗传代谢病筛查, 以甘肃省为例[J]. 基因组学与应用生物学, 2020, 39: 1955-1960. https://www.cnki.com.cn/Article/CJFDTOTAL-GXNB202004068.htm
    [12] 杨宇奇, 蒋曙红, 韩小亚, 等. 20027例新生儿遗传代谢病串联质谱筛查的初步报告[J]. 重庆医学, 2018, 47: 108-111. https://www.cnki.com.cn/Article/CJFDTOTAL-CQYX201802035.htm
    [13] 卫生部临床检验中心新生儿遗传代谢疾病筛查室间质量评价委员会. 新生儿疾病串联质谱筛查技术专家共识[J]. 中华检验医学杂志, 2019, 42: 89-97. doi:  10.3760/cma.j.issn.1009-9158.2019.02.004
    [14] Zhou X, Cui Y, Han J. Methylmalonic acidemia: Current status and research priorities[J]. Intractable Rare Dis Res, 2018, 7: 73-78. doi:  10.5582/irdr.2018.01026
    [15] Baumgartner MR, Hörster F, Dionisi-Vici C, et al. Pro-posed guidelines for the diagnosis and management of methylmalonic and propionic acidemia[J]. Orphanet J Rare Dis, 2014, 9: 130. http://www.ncbi.nlm.nih.gov/pubmed/25205257
    [16] Fraser JL, Venditti CP. Methylmalonic and propionic acidemias: clinical management update[J]. Curr Opin Pediatr, 2016, 28: 682-693. doi:  10.1097/MOP.0000000000000422
    [17] 王彦云, 孙云, 蒋涛. 串联质谱和高效液相色谱-串联质谱二次筛查联合应用于新生儿MMA筛查[J]. 临床检验杂志, 2018, 36: 350-354. https://www.cnki.com.cn/Article/CJFDTOTAL-LCJY201805008.htm

    Wang YY, Sun Y, Jiang T. Combined application of MS/MS and LC-MS/MS in the newborn screening of children with methylmalonic acidemia[J]. Linchuang Jianyan Zazhi, 2018, 36: 350-354. https://www.cnki.com.cn/Article/CJFDTOTAL-LCJY201805008.htm
    [18] Yang DT, Cook RJ. Spurious elevations of vitamin B12 with pernicious anemia[J]. N Engl J Med, 2012, 366: 1742-1743. doi:  10.1056/NEJMc1201655
    [19] Natarajan A, Christopher R, Netravathi M, et al. Flow injection ionization-tandem mass spectrometry-based estimation of a panel of lysophosphatidylcholines in dried blood spots for screening of X-linked adrenoleukodystrophy[J]. Clin Chim Acta, 2019, 495: 167-173. doi:  10.1016/j.cca.2019.04.059
    [20] Takashima S, Toyoshi K, Itoh T, et al. Detection of unusual very-long-chain fatty acid and ether lipid derivatives in the fibroblasts and plasma of patients with peroxisomal diseases using liquid chromatography-mass spectrometry[J]. Mol Genet Metab, 2017, 120: 255-268. http://www.sciencedirect.com/science/article/pii/S1096719216301809
    [21] Wang D, Yu S, Zhang Y, et al. Rapid liquid chromatography-tandem mass spectrometry to determine very-long-chain fatty acids in human and to establish reference intervals for the Chinese population[J]. Clin Chim Acta, 2019, 495: 185-190. doi:  10.1016/j.cca.2019.04.058
    [22] Raimann A, Mindler GT, Kocijan R, et al. Multidisciplinary patient care in X-linked hypophosphatemic rickets: one challenge, many perspectives[J]. Wien Med Wochenschr, 2020, 170: 116-123. http://www.researchgate.net/publication/338011224_Multidisciplinary_patient_care_in_X-linked_hypophosphatemic_rickets_XLH_One_challenge_many_perspectives
    [23] 王青青, 薛颖. 遗传性低磷血症性佝偻病简述[J]. 发育医学电子杂志, 2020, 3: 277-281. https://www.cnki.com.cn/Article/CJFDTOTAL-FYYD202003016.htm
    [24] Ketha H, Kumar R, Singh RJ. LC-MS/MS for Identifying Patients with CYP24A1 Mutations[J]. Clin Chem, 2016, 62: 236-242. http://smartsearch.nstl.gov.cn/paper_detail.html?id=10e9a28cf5768d6316fc96857c543e5b
    [25] Yu S, Zhou W, Wang D, et al. Rapid liquid chromato-graphy-tandem mass spectrometry method for determination of 24, 25(OH)2D and 25OHD with efficient separation of 3-epi analogs[J]. J Steroid Biochem Mol Biol, 2019, 187: 146-151. http://www.ncbi.nlm.nih.gov/pubmed/30476592
    [26] Jenkinson C, Taylor AE, Hassan-Smith ZK, et al. High throughput LC-MS/MS method for the simultaneous analysis of multiple vitamin D analytes in serum[J]. J Chromatogr B Analyt Technol Biomed Life Sci, 2016, 1014: 56-63. http://smartsearch.nstl.gov.cn/paper_detail.html?id=523433a1136bba9bb1212b87d55e2197
    [27] Yu S, Cheng X, Fang H, et al. 25OHD analogues and vacuum blood collection tubes dramatically affect the accuracy of automated immunoassays[J]. Sci Rep, 2015, 5: 14636.
    [28] Xu WL, Ling YC, Wang ZK, et al. Diagnostic performance of serum IgG4 level for IgG4-related disease: a meta-analysis[J]. Sci Rep, 2016, 6: 32035. http://www.ncbi.nlm.nih.gov/pubmed/27558881
    [29] Bossuyt X, Mariën G, Meyts I, et al. Determination of IgG subclasses: a need for standardization[J]. J Allergy Clin Immunol, 2005, 115: 872-874.
    [30] Wilson C, Ebling R, Henig C, et al. Significant, quanti-fiable differences exist between IgG subclass standards WHO67/97 and ERM-DA470k and can result in different interpretation of results[J]. Clin Biochem, 2013, 46: 1751-1755.
    [31] Parker AR, Hughes RG, Mead GP, et al. Reply to "pediatric reference intervals for immunoglobulin G and its subclasses with Siemens immunonephelometric assays"[J]. Clin Biochem, 2011, 44: 745-746. http://europepmc.org/abstract/MED/21291876
    [32] Khosroshahi A, Cheryk LA, Carruthers MN, et al. Brief Report: spuriously low serum IgG4 concentrations caused by the prozone phenomenon in patients with IgG4-related disease[J]. Arthritis Rheumatol, 2014, 66: 213-217. http://www.ncbi.nlm.nih.gov/pubmed/24431286
    [33] Stone JH, Brito-Zerón P, Bosch X, et al. Diagnostic Approach to the Complexity of IgG4-Related Disease[J]. Mayo Clin Proc, 2015, 90: 927-939. http://www.ncbi.nlm.nih.gov/pubmed/26141331
    [34] Ladwig PM, Barnidge DR, et al. Quantification of serum IgG subclasses by use of subclass-specific tryptic peptides and liquid chromatography--tandem mass spectrometry[J]. Clin Chem, 2014, 60: 1080-1088. http://europepmc.org/abstract/med/24799527
    [35] van der Gugten G, DeMarco ML, Chen LYC, et al. Resolution of Spurious Immunonephelometric IgG Subclass Measurement Discrepancies by LC-MS/MS[J]. Clin Chem, 2018, 64: 735-742. http://smartsearch.nstl.gov.cn/paper_detail.html?id=afd8b850946f70bff8e85f2a302c5ad3
    [36] Saiki S, Sasazawa Y, Fujimaki M, et al. A metabolic profile of polyamines in parkinson disease: A promising biomarker[J]. Ann Neurol, 2019, 86: 251-263. doi:  10.1002/ana.25516
    [37] Nybo SE, Lamberts JT. Integrated use of LC/MS/MS and LC/Q-TOF/MS targeted metabolomics with automated label-free microscopy for quantification of purine metabolites in cultured mammalian cells[J]. Purinergic Signal, 2019, 15: 17-25.
    • Relative Articles(0)
    • Supplements(0)
    • Cited By
  • 加载中

Catalog

    通讯作者: 陈斌, bchen63@163.com
    • 1. 

      沈阳化工大学材料科学与工程学院 沈阳 110142

    1. 本站搜索
    2. 百度学术搜索
    3. 万方数据库搜索
    4. CNKI搜索

    Figures(1)

    Get Citation
    PDF
    XML

    Article Metrics

    Article views (1002) PDF downloads(228) Cited by()
    Proportional views
    Related
    Links: National Health Commission of the People's Republic of China Chinese Academy of Medical Sciences(CAMS) AMLC Check CNKI Database CNKI Term Online Chinese General Practice
    Address：Room 302,Third Floor,Building 7, No. 1 Shuaifuyuan, Wangfujing, Dongcheng District, Beijing 100730, China
    Tel：010-69154261/4262
    E - mail：medj@pumch.cn
    mjpumch@126.com
    Copyright of website：Editorial Office of Medical Journal of Peking Union Medical College Hospital

    Supported by: Beijing Renhe Information Technology Co. Ltd    

    /

    DownLoad:  Full-Size Img  PowerPoint
    Return
    Return